ORPHA:909
Cerebrotendinous xanthomatosis
Also known as: CTX · Sterol 27-hydroxylase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,794
Trials
4
Interventional, condition-specific
Researchers
1,122
Distinct authors in sample
Gene link
CYP27A1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008948
- MeSH:D019294
- OMIM:213700
- UMLS:C0238052
- NCIT:C84628
Additional Mondo synonyms (4)
CTx · cerebrotendinous xanthomatosis · cholestanol storage disease · sterol 27-hydroxylase deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — CYP27A1
- LiteraturePresent
1,794 matched papers (888 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
4 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (CYP27A1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,794
1,794 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,794 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
888 in the last 10 years · low confidence
Phrase hits: 1,794 · MeSH hits: 0
Who's working on it?
1,122
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Kemper EM8 papers · 2026
Department of Experimental Vascular Medicine, Amsterdam UMC, Amsterdam, Netherlands.
Papers in Europe PMC - 02Nóbrega PR8 papers · 2026
Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza 60430-372, Brazil.
Papers in Europe PMC - 03Braga-Neto P7 papers · 2026
Division of Neurology, Walter Cantidio University Hospital, Federal University of Ceara, Fortaleza 60430-372, CE, Brazil.
Papers in Europe PMC - 04Vaz FM7 papers · 2026
Amsterdam UMC Location University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: f.m.vaz@amsterdamumc.nl.
Papers in Europe PMC - 05Bonnen PE6 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 06
- 07Garg D6 papers · 2026
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 08Hanson J6 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 09Lima PLGSB6 papers · 2026
Faculty of Medicine, Federal University of Ceara, Fortaleza 60430-372, Brazil.
Papers in Europe PMC - 10Agarwal A5 papers · 2026
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
low confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: xanthomatosis
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05368038·ENROLLING BY INVITATION·ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Conditions: Acid Sphingomyelinase Deficiency · Ceroid Lipofuscinosis, Neuronal, 2 · Cerebrotendinous Xanthomatosis · Fabry Disease·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Cerebrotendinous xanthomatosis" OR "Sterol 27-hydroxylase deficiency" OR "cholestanol storage disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cerebrotendinous xanthomatosis" OR "Sterol 27-hydroxylase deficiency" OR "cholestanol storage disease" OR "CYP27A1"
Recall-expansion terms: CYP27A1
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"xanthomatosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CTX
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1794) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T15:52:53.115Z